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ONTOLOGY REPORT - ANNOTATIONS


Term:Heimler syndrome 1
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Accession:DOID:0080623 term browser browse the term
Definition:A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: Deafness Enamel Hypoplasia Nail Defects;   HMLR1;   Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects;   Heimler syndrome;   PBD1C;   PEROXISOME BIOGENESIS DISORDER 1C;   bilateral sensorineural hearing loss, enamel hypoplasia and nail defects;   peroxisomal biogenesis disorder 1C;   sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
 broad_synonym: Deafness-enamel hypoplasia-nail defects syndrome
 primary_id: MESH:C535994
 alt_id: OMIM:234580
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Heimler syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:7240710
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Pathological Conditions, Signs and Symptoms 8440
      Anatomical Pathological Conditions 1433
        Malformed Nails 21
          Heimler syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          mouth disease 718
            tooth disease 270
              teeth hard tissue disease 62
                dental enamel hypoplasia 54
                  amelogenesis imperfecta 52
                    Heimler syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.